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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium2
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… a little-known inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has … ClinGen is an NHGRI-funded resource that defines the clinical relevance or validity of genes in various genetic … suggest that these genes not be routinely tested in clinical settings when evaluating patients and families with …
Research at NHGRI
In NHGRI, Staff Clinicians work on many different clinical research studies, including helping to better understand, manage, and treat a diverse group of clinical conditions.
… who focuses on providing clinically-oriented patient care services as part of research studies. Staff Clinicians are expected to provide clinical leadership and the highest level of clinical care. In NHGRI, Staff Clinicians work on many …
Staff
Dr. Nephi Walton is a clinical geneticist, medical informaticist, and Program Director for the National Human Genome Research Institute (NHGRI) AnVIL Clinical Resource.
… Nephi A. Walton, M.D., M.S., FACMG … Dr. Nephi Walton is a clinical geneticist, medical informaticist, and Program … the National Human Genome Research Institute (NHGRI) AnVIL Clinical Resource. With over 20 years of experience in … founded and led two commercial startups. He continues to care for patients with complex rare disorders in his clinical …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of … significant. …  Genetic diagnosis of hearing loss informs clinical management but is less likely in underrepresented …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… British Columbia  … American Association of Critical-Care Nurses (AACN) defines entry-level nurses as nurses who … and Human Services or the United States government. … Clinical care is increasingly focusing on precision health . … the mechanisms of disease  Genomics principles influence clinical actions Genomics knowledge is essential for …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… at the NIH where she subsequently completed a residency in Clinical Genetics at NHGRI and subspecialty fellowship training in Clinical Biochemical Genetics. Dr. Merideth is board … a variety of genetic and metabolic disorders, providing care in both gynecology and genetics. In 2016, Dr. Merideth …
Research at NHGRI
The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.
… Taking care of a loved one with a long-term health condition can be … S, Hyman S. Caregiving interactions and behaviors in the care of children with rare genetic or undiagnosed conditions …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet … to diagnose such a condition is not part of standard care. She had hit a roadblock until she happened to speak … (NIH).  Thanks to her aunt, Emily found the NIH RUNX1-FPD clinical research study , which takes a detailed look at the …
Research at NHGRI
A list of scientific and clinical research investigators at NHGRI.
… … Research Investigators … A list of scientific and clinical research investigators at the National Human Genome Research Institute. … A list of scientific and clinical research investigators at NHGRI. … Research at NHGRI …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… knowledge about genomics to provide safe and effective care for patients. The scope of practice for nurse … are considered specialists in genetics and genomics: Clinical geneticists (M.D.s and D.O. degrees certified by the … genetics clinics.  Nurse practitioners with the Advanced Clinical Genomics Nurse credential (ACGN).  Genetic …